Canonical Allele Identifier: CA913184836

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846246_43846247insC , CM000664.2:g.43846246_43846247insC	GRCh38
NC_000002.11:g.44073385_44073386insC , CM000664.1:g.44073385_44073386insC	GRCh37
NC_000002.10:g.43926889_43926890insC	NCBI36
NG_008884.1:g.12283_12284insC
NG_008884.2:g.19305_19306insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.257_258insC MANE Select	ENSP00000272286.2:p.Ile88HisfsTer?
ENST00000643284.1:n.714_715insC
ENST00000644611.1:c.269_270insC	ENSP00000495423.1:p.Ile92HisfsTer?
ENST00000272286.2:c.257_258insC	ENSP00000272286.2:p.Ile88HisfsTer?
NM_022437.2:c.257_258insC	NP_071882.1:p.Ile88HisfsTer?
XM_005264483.2:c.257_258insC	XP_005264540.1:p.Ile88HisfsTer?
XM_011533029.1:c.269_270insC	XP_011531331.1:p.Ile92HisfsTer?
XM_011533030.1:c.269_270insC	XP_011531332.1:p.Ile92HisfsTer?
XM_011533031.1:c.41_42insC	XP_011531333.1:p.Ile16HisfsTer?
XR_939707.1:n.759_760insC
NM_001357321.1:c.257_258insC	NP_001344250.1:p.Ile88HisfsTer?
XM_011533029.2:c.269_270insC	XP_011531331.1:p.Ile92HisfsTer?
XM_011533030.2:c.269_270insC	XP_011531332.1:p.Ile92HisfsTer?
XR_001738891.1:n.773_774insC
XR_939707.2:n.773_774insC
NM_022437.3:c.257_258insC MANE Select	NP_071882.1:p.Ile88HisfsTer?
NM_001357321.2:c.257_258insC	NP_001344250.1:p.Ile88HisfsTer?